Autosomal recessive hereditary disorder
Disorder of cholesterol catabolism
Synthetic defect of bile acids
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Delta-4-3-oxosteroid-5-beta-reductase deficiency (disorder)
Delta-4-3-oxosteroid-5-beta-reductase deficiency
Congenital bile acid synthesis defect type 2
An anomaly of bile acid synthesis with characteristics of severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins. Patients present with neonatal cholestasis and rapid progression to cirrhosis and death in infancy without intervention. Caused by a mutation in the delta(4)-3-oxosteroid 5-beta-reductase gene (AKR1D1, 7q32-q33). Transmission is autosomal recessive.
deficiëntie van delta-4-3-oxosteroïde-5-bètareductase
delta-4-3-oxosteroïde-5-bètareductasedeficiëntie
Id238035000
StatusPrimitive
Finding siteLiver structure
OccurrenceCongenital
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE78.8
RuleTRUE
AdviceALWAYS E78.8
CorrelationSNOMED CT source code to target map code correlation not specified